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Variant : CV24024 (NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)) Homo sapiens

Symbol: CV24024
Name: NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
Condition: Leukemia, acute myeloid, somatic [RCV000009548]|AML - Acute myeloid leukemia [RCV000009548]
Clinical Significance: pathogenic|other
Last Evaluated: 08/26/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ETV6  
Variant Type: insertion (SO:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel|inframe_variant
Evidence: literature only
HGVS Name(s): NM_001987.4:c.1307_1308insGGG
NG_011443.1:g.246141_246142insGGG
NC_000012.12:g.11890994_11890995insGGG
NC_000012.11:g.12043928_12043929insGGG
NP_001978.1:p.His436delinsGlnGly
LRG_609t1:c.1307_1308insGGG
LRG_609:g.246141_246142insGGG
LRG_609p1:p.His436delinsGlnGly
NM_001987.4:c.1307_1308insGGG
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,890,994 - 11,890,995CLINVAR
GRCh371212,043,928 - 12,043,929CLINVAR
Cytogenetic Map1212p13.2CLINVAR
Trait Synonyms: Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic
Age Of Onset: all ages|variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8560819
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.